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Itpr3 Gene Detail
Summary
  • Symbol
    Itpr3
  • Name
    inositol 1,4,5-triphosphate receptor 3
  • Synonyms
    Ip3r3, Itpr-3, tf
  • Feature Type
    protein coding gene
  • IDs
    MGI:96624
    NCBI Gene: 16440
  • Alliance
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:27276278-27341197 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 17, 13.68 cM
  • Mapping Data
    64 experiments
Strain
Comparison
more
  • SNPs within 2kb
    596 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_96624
protein coding gene Chr17:27275976-27341197 (+)
129S1/SvImJ MGP_129S1SvImJ_G0023416
protein coding gene Chr17:26305425-26372717 (+)
A/J MGP_AJ_G0023373
protein coding gene Chr17:25494083-25566820 (+)
AKR/J MGP_AKRJ_G0023339
protein coding gene Chr17:25630176-25706573 (+)
BALB/cJ MGP_BALBcJ_G0023378
protein coding gene Chr17:25742591-25809740 (+)
C3H/HeJ MGP_C3HHeJ_G0023139
protein coding gene Chr17:26010751-26080956 (+)
C57BL/6NJ MGP_C57BL6NJ_G0023821
protein coding gene Chr17:27417370-27490358 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0021295
protein coding gene Chr17:22906092-22970034 (+)
CAST/EiJ MGP_CASTEiJ_G0022640
protein coding gene Chr17:25938888-26010439 (+)
CBA/J MGP_CBAJ_G0023113
protein coding gene Chr17:28361933-28443971 (+)
DBA/2J MGP_DBA2J_G0023245
protein coding gene Chr17:25058632-25128963 (+)
FVB/NJ MGP_FVBNJ_G0023214
protein coding gene Chr17:24839945-24907404 (+)
LP/J MGP_LPJ_G0023322
protein coding gene Chr17:26550551-26621024 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0023232
protein coding gene Chr17:27886303-27958886 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0023862
protein coding gene Chr17:26009128-26080939 (+)
PWK/PhJ MGP_PWKPhJ_G0022390
protein coding gene Chr17:23855557-23922732 (+)
SPRET/EiJ MGP_SPRETEiJ_G0022208
protein coding gene Chr17:24040987-24125215 (+)
WSB/EiJ MGP_WSBEiJ_G0022703
protein coding gene Chr17:26034323-26107648 (+)



Homology
more
  • Human Ortholog
    ITPR3, inositol 1,4,5-trisphosphate receptor type 3
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ITPR3, inositol 1,4,5-trisphosphate receptor type 3
  • Synonyms
    CMT1J, IP3R, IP3R3
  • Links
    NCBI Gene ID: 3710
    neXtProt AC: NX_Q14573
    UniProt: Q14573

  • Chr Location
    6p21.31; chr6:33620365-33696574 (+)  GRCh38

Human Diseases
more
  • Diseases
    1 with Itpr3 mouse models; 2 with human ITPR3 associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    30 phenotypes from 6 alleles in 7 genetic backgrounds
    27 phenotypes from multigenic genotypes
    1 images
    87 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele are viable and fertile and exhibit no apparent abnormalities in pancreatic and salivary secretion. However, one mutation in this gene results in alternating abnormal hair loss and normal hair growth throughout the life of the mouse and low sweet preference.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000042644 Ensembl Gene Model | MGI Sequence Detail 64920 C57BL/6J ±  kb
    transcript ENSMUST00000049308 Ensembl | MGI Sequence Detail 8990 Not Applicable  
    polypeptide ENSMUSP00000038150 Ensembl | MGI Sequence Detail 2670 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 99
      cDNA 97
      Primer pair 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-11440, MGD-MRK-11507, MGD-MRK-11509, MGD-MRK-15043, MGI:98711
    References
    more
    • Summaries
      All 198
      Developmental Gene Expression 21
      Diseases 3
      Gene Ontology 18
      Phenotypes 87
    • Earliest
      J:273 Lyon MF, Hereditary hair loss in the tufted mutant of the house mouse. J Hered. 1956;47(2):101-3
    • Latest
      J:335760 Zhang T, et al., The role of Eya1 and Eya2 in the taste system of mice from embryonic stage to adulthood. Front Cell Dev Biol. 2023;11:1126968

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    last database update
    03/12/2024
    MGI 6.23
    The Jackson Laboratory